ALLMedicine™ Alkaptonuria Center

Feb 13th, 2023 - Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin in the third or fourth decade and progress to inca...

Jan 8th, 2023 - The aim of the current study was to determine whether there is an association between alkaptonuria (AKU) and urinary tract infection (UTI) by exploring the bacterial quality of the urinary tract, as most of the patients with AKU present with frequ...

Jan 5th, 2023 - Alkaptonuria is a rare inherited disorder for which there was no disease-modifying treatment. In order to develop a successful approved therapy of AKU multiple barriers had to be overcome. These included activities before the conduct of the study ...

Nov 7th, 2022 - Ochronosis refers to the blue-black discoloration of connective tissue. While cardiovascular ochronosis has been described resulting from alkaptonuria, it may also result from chronic minocycline use which is exceedingly rare. Cardiovascular ochro...

Sep 16th, 2022 - 10 participants with tyrosinaemia or alkaptonuria will be invited to participate in this study. Following consent they will be assessed by their dietitian and a recommended amount of Tyr sphere will be prescribed based on their individual needs. T...

Feb 13th, 2023 - Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin in the third or fourth decade and progress to inca...

Sep 16th, 2022 - 10 participants with tyrosinaemia or alkaptonuria will be invited to participate in this study. Following consent they will be assessed by their dietitian and a recommended amount of Tyr sphere will be prescribed based on their individual needs. T...

Aug 26th, 2021 - Alkaptonuria is a rare metabolic disease in which homogentisic acid (HGA), an intermediary metabolite in tyrosine catabolism, accumulates due to deficiency of the enzyme homogentisic acid oxidase. Patients with alkaptonuria exhibit homogentisic ac...

Apr 22nd, 2021 - Study procedures are designed to: Develop a method for nitisinone measurement via tandem mass spectrometry (MS/MS). Determine whether differences between adult and children could be erased by employing a dosage regimen based on m2 of body surface ...

Feb 26th, 2021 - Alkaptonuria (AKU) is a degenerative disease affecting the cartilage of the joints. The disease affects movement function, particularly walking/gait which is an important activity of daily living. It is believed that increased joint loading measur...

Jan 7th, 2020 - Manipulating the metabolic pathway of phenylalanine with medication is a second option. An example of this is nitisinone, a US Food and Drug Administration-approved medication for treatment of tyrosinemia.

Jan 7th, 2020 - Alkaptonuria is a rare autosomal recessive disorder uniquely known for causing black, or darkened, urine when left standing due to the renal excretion of excess homogentisic acid (HGA). When this disorder goes undiagnosed, as demonstrated in this.

Jan 9th, 2015 - Localized cutaneous argyria often presents as asymptomatic black or blue-gray pigmented macules in areas of the skin exposed to silver-containing compounds. 1 Silver may enter the skin by traumatic implantation or absorption via eccrine sweat gland.

Abstract Background Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autoso...